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Identification of a Novel Mutation in a Pseudohypoparathyroidism Family
Joint Authors
Wang, Bin-Bin
Su, Dong-Mei
Miao, Zhi-Min
Meng, Dong-Mei
Wang, Can
Yu, Qing
Wen, Qiao-Lian
Cheng, Zhi
Han, Lin
Source
International Journal of Endocrinology
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-07-21
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Pseudohypoparathyroidism type Ia (PHP Ia) is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO) phenotype.
PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha subunit (Gsa).
A patient with typical clinical manifestations of pseudohypoparathyroidism (PHP) (round face, short stature, centripetal obesity, brachydactyly, and multi-hormone resistance: parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), and gonadotropins) presented at our center.
The sequence of the GNAS gene from the patient and her families revealed a novel missense mutation (Y318H) in the proband and her mother.
An in vitro Gsa functional study showed that Gsa function was significantly impaired.
These results stress the importance of GNAS gene investigation.
American Psychological Association (APA)
Miao, Zhi-Min& Wang, Can& Wang, Bin-Bin& Meng, Dong-Mei& Su, Dong-Mei& Cheng, Zhi…[et al.]. 2011. Identification of a Novel Mutation in a Pseudohypoparathyroidism Family. International Journal of Endocrinology،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-477331
Modern Language Association (MLA)
Miao, Zhi-Min…[et al.]. Identification of a Novel Mutation in a Pseudohypoparathyroidism Family. International Journal of Endocrinology No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-477331
American Medical Association (AMA)
Miao, Zhi-Min& Wang, Can& Wang, Bin-Bin& Meng, Dong-Mei& Su, Dong-Mei& Cheng, Zhi…[et al.]. Identification of a Novel Mutation in a Pseudohypoparathyroidism Family. International Journal of Endocrinology. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-477331
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-477331